Mutagenetix > Incidental Mutation

Incidental Mutation 'R9021:Mmp14'

686238

Institutional Source

Beutler Lab

Gene Symbol

Mmp14

Ensembl Gene

ENSMUSG00000000957

Gene Name

matrix metallopeptidase 14 (membrane-inserted)

Synonyms

sabe, Membrane type 1-MMP, MT1-MMP

MMRRC Submission

068851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R9021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54669055-54679913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54673632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 99 (F99L)

Ref Sequence

ENSEMBL: ENSMUSP00000087119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089688] [ENSMUST00000196155] [ENSMUST00000197874] [ENSMUST00000225641]

AlphaFold

P53690

Predicted Effect

probably benign
Transcript: ENSMUST00000089688
AA Change: F99L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: F99L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:PG_binding_1	36	88	2.1e-12	PFAM
ZnMc	115	285	6.01e-58	SMART
HX	323	366	3.97e-9	SMART
HX	368	412	1.42e-10	SMART
HX	415	461	4.45e-12	SMART
HX	463	508	1.61e-9	SMART
Pfam:DUF3377	512	582	2.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196155

Predicted Effect

probably benign
Transcript: ENSMUST00000197874

Predicted Effect

probably benign
Transcript: ENSMUST00000225641
AA Change: F99L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein exhibit craniofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibrosis of soft tissues. [provided by RefSeq, Feb 2016]
PHENOTYPE: Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,864 (GRCm39)	D770G	possibly damaging	Het
Amph	G	A	13: 19,284,071 (GRCm39)	G200D	probably benign	Het
Asap2	T	A	12: 21,253,999 (GRCm39)	L170H	possibly damaging	Het
Asap3	T	C	4: 135,966,299 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,094,712 (GRCm39)	M595K	probably benign	Het
Bltp1	T	A	3: 37,052,493 (GRCm39)	D3064E	probably benign	Het
Ccnf	A	T	17: 24,445,679 (GRCm39)	Y522*	probably null	Het
Ceacam5	A	T	7: 17,448,877 (GRCm39)	Y81F	possibly damaging	Het
Chd2	A	T	7: 73,091,393 (GRCm39)	M1616K	probably benign	Het
Clint1	T	A	11: 45,797,042 (GRCm39)	S374R	probably benign	Het
Col6a6	A	T	9: 105,586,745 (GRCm39)	F1759I	possibly damaging	Het
Crocc	T	A	4: 140,749,674 (GRCm39)	I1487F	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,402,490 (GRCm39)	I1230T	probably benign	Het
Dsp	A	T	13: 38,380,808 (GRCm39)	I2518L	possibly damaging	Het
Eps8l2	G	T	7: 140,936,117 (GRCm39)	V224L	possibly damaging	Het
Etv1	T	C	12: 38,830,971 (GRCm39)	V13A	probably benign	Het
Fam78a	T	C	2: 31,959,313 (GRCm39)	M266V	probably benign	Het
Fam81a	A	G	9: 70,017,538 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,709,620 (GRCm39)	I245V	probably damaging	Het
Flot2	T	C	11: 77,949,805 (GRCm39)	V378A	probably benign	Het
Fras1	T	A	5: 96,888,609 (GRCm39)	S2718R	probably damaging	Het
Gata3os	T	A	2: 9,887,345 (GRCm39)		probably benign	Het
Gm14305	A	G	2: 176,413,167 (GRCm39)	K353R	possibly damaging	Het
Inppl1	A	C	7: 101,480,915 (GRCm39)	V315G	probably damaging	Het
Kbtbd6	A	T	14: 79,690,822 (GRCm39)	I506F	probably damaging	Het
Klf6	G	C	13: 5,915,160 (GRCm39)	G200R	probably benign	Het
Lrp6	A	G	6: 134,518,930 (GRCm39)	I45T	probably benign	Het
Lrriq4	T	G	3: 30,704,401 (GRCm39)	V143G	probably benign	Het
Map2k2	G	T	10: 80,955,159 (GRCm39)	G217C	probably damaging	Het
Mcm10	T	C	2: 4,997,782 (GRCm39)	N813S	probably benign	Het
Mfng	T	A	15: 78,657,348 (GRCm39)	N42I	probably benign	Het
Mical1	A	G	10: 41,361,141 (GRCm39)	D808G	probably benign	Het
Mroh8	A	T	2: 157,064,787 (GRCm39)	V763E	probably benign	Het
Mycbp2	G	T	14: 103,551,752 (GRCm39)	P193T	probably benign	Het
Myo1b	T	C	1: 51,821,142 (GRCm39)	D447G	possibly damaging	Het
Myoz2	T	A	3: 122,807,284 (GRCm39)		probably benign	Het
Narf	C	A	11: 121,136,209 (GRCm39)	P195Q	probably damaging	Het
Nfatc3	T	A	8: 106,818,745 (GRCm39)	F496I	probably damaging	Het
Nudt13	A	G	14: 20,360,772 (GRCm39)	Y225C	probably damaging	Het
Or10ab5	A	T	7: 108,245,428 (GRCm39)	Y118*	probably null	Het
Or11h4	T	G	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or2i1	G	T	17: 37,508,380 (GRCm39)	R85S	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdcd2l	A	G	7: 33,885,760 (GRCm39)	L308P	probably damaging	Het
Pitx2	T	A	3: 129,008,432 (GRCm39)		probably null	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Poc1b	A	G	10: 98,980,183 (GRCm39)	N180S	possibly damaging	Het
Poln	T	A	5: 34,286,485 (GRCm39)	M228L	probably benign	Het
Prex1	C	A	2: 166,432,429 (GRCm39)	V707F	possibly damaging	Het
Rasal2	A	T	1: 157,058,514 (GRCm39)	V12D	unknown	Het
Ripk1	A	G	13: 34,205,373 (GRCm39)	E284G	probably benign	Het
Rpa2	T	C	4: 132,499,251 (GRCm39)	W107R	probably damaging	Het
Selp	A	G	1: 163,954,177 (GRCm39)	Y159C	probably damaging	Het
Serpina1a	A	T	12: 103,824,293 (GRCm39)	W30R	probably benign	Het
Skic2	A	G	17: 35,065,579 (GRCm39)	V325A	probably damaging	Het
Slco6d1	A	G	1: 98,371,396 (GRCm39)	R294G	probably benign	Het
Supt5	A	T	7: 28,016,671 (GRCm39)	I737N	probably damaging	Het
Thap11	T	C	8: 106,582,660 (GRCm39)	V223A	probably damaging	Het
Trabd	T	A	15: 88,968,913 (GRCm39)	S144T	possibly damaging	Het
Trim24	T	A	6: 37,933,949 (GRCm39)	S701T	probably damaging	Het
Trim52	C	T	14: 106,344,986 (GRCm39)	P215S	possibly damaging	Het
Vmn1r172	G	T	7: 23,359,749 (GRCm39)	L211F	probably damaging	Het
Vmn2r86	A	C	10: 130,282,934 (GRCm39)	Y561D	probably damaging	Het
Zfp384	C	A	6: 125,013,336 (GRCm39)	A468E		Het
Zfp658	A	G	7: 43,223,381 (GRCm39)	H552R	possibly damaging	Het
Zranb2	T	C	3: 157,250,720 (GRCm39)	V297A	unknown	Het

Other mutations in Mmp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Mmp14	APN	14	54,673,247 (GRCm39)	missense	possibly damaging	0.60
IGL01937:Mmp14	APN	14	54,675,053 (GRCm39)	splice site	probably benign
IGL02565:Mmp14	APN	14	54,678,014 (GRCm39)	missense	probably benign	0.02
Buffo	UTSW	14	54,675,115 (GRCm39)	missense	probably damaging	1.00
cartoon	UTSW	14	54,677,456 (GRCm39)	missense	probably damaging	0.96
Cartoonish	UTSW	14	54,674,232 (GRCm39)	missense	probably damaging	1.00
mumping	UTSW	14	54,676,869 (GRCm39)	missense	probably damaging	1.00
IGL03134:Mmp14	UTSW	14	54,676,563 (GRCm39)	missense	probably damaging	1.00
R0053:Mmp14	UTSW	14	54,676,109 (GRCm39)	splice site	probably benign
R0053:Mmp14	UTSW	14	54,676,109 (GRCm39)	splice site	probably benign
R0538:Mmp14	UTSW	14	54,676,166 (GRCm39)	missense	possibly damaging	0.47
R0612:Mmp14	UTSW	14	54,677,891 (GRCm39)	missense	probably damaging	1.00
R2352:Mmp14	UTSW	14	54,678,002 (GRCm39)	missense	probably benign	0.30
R3700:Mmp14	UTSW	14	54,669,389 (GRCm39)	unclassified	probably benign
R4289:Mmp14	UTSW	14	54,673,665 (GRCm39)	nonsense	probably null
R4888:Mmp14	UTSW	14	54,673,662 (GRCm39)	missense	probably damaging	0.98
R5068:Mmp14	UTSW	14	54,676,570 (GRCm39)	missense	probably damaging	1.00
R5069:Mmp14	UTSW	14	54,676,570 (GRCm39)	missense	probably damaging	1.00
R5070:Mmp14	UTSW	14	54,676,570 (GRCm39)	missense	probably damaging	1.00
R5216:Mmp14	UTSW	14	54,675,120 (GRCm39)	missense	possibly damaging	0.82
R5607:Mmp14	UTSW	14	54,676,869 (GRCm39)	missense	probably damaging	1.00
R6053:Mmp14	UTSW	14	54,673,347 (GRCm39)	missense	probably benign	0.39
R6477:Mmp14	UTSW	14	54,675,115 (GRCm39)	missense	probably damaging	1.00
R7153:Mmp14	UTSW	14	54,673,708 (GRCm39)	missense	possibly damaging	0.93
R7212:Mmp14	UTSW	14	54,673,336 (GRCm39)	missense	probably damaging	1.00
R7555:Mmp14	UTSW	14	54,675,199 (GRCm39)	missense	possibly damaging	0.96
R7957:Mmp14	UTSW	14	54,673,707 (GRCm39)	missense	probably benign	0.01
R8263:Mmp14	UTSW	14	54,673,244 (GRCm39)	missense	probably damaging	1.00
R8409:Mmp14	UTSW	14	54,678,125 (GRCm39)	missense	probably damaging	1.00
R8785:Mmp14	UTSW	14	54,674,232 (GRCm39)	missense	probably damaging	1.00
R9325:Mmp14	UTSW	14	54,676,248 (GRCm39)	missense	probably damaging	1.00
R9367:Mmp14	UTSW	14	54,677,960 (GRCm39)	missense	probably benign	0.17
R9425:Mmp14	UTSW	14	54,677,804 (GRCm39)	missense	probably damaging	0.99
R9544:Mmp14	UTSW	14	54,673,251 (GRCm39)	missense	possibly damaging	0.85
R9583:Mmp14	UTSW	14	54,678,069 (GRCm39)	missense	probably benign	0.24
RF003:Mmp14	UTSW	14	54,676,471 (GRCm39)	nonsense	probably null
X0064:Mmp14	UTSW	14	54,669,403 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGACCGTGCTGAATACCAAAC -3'
(R):5'- CTAGGAATGGACAGTAGCCCAG -3'

Sequencing Primer
(F):5'- GTGCTGAATACCAAACATGCTTC -3'
(R):5'- AGTAGCCCAGGCCACCTTTG -3'

Posted On

2021-10-11